Table 2

Unique mutations that occurred in tumors from five or more ICI-DM patients

GeneGene nameChromosome|mutationProtein changeTop consequenceNumber of ICI-DM Patients with mutation (n=13)Cancer types represented (n=5)
NLRC5NLR family CARD domain containing 5chr16:57025515|SNP:C>TPro191LeuMissense94
DNAJB11DnaJ heat shock protein family (Hsp40) member B11chr3:186583914|SNP:A>GIle264ValMissense74
PXNPaxillinchr12:120216281|SNP:G>CPro160AlaMissense75
XRCC3X-ray repair cross complementing 3chr14:103699416|SNP:G>AThr241MetMissense74
ERCC6L2ERCC excision repair 6 like 2chr9:95876006|SNP:A>G−64+4737A>GStart lost64
HNRNPUL2Heterogeneous nuclear ribonucleoprotein U like 2chr11:62715379|Del:ACT…AC>Ac.2163+1_2164-1delSplice donor variant64
ABCA2ATP binding cassette subfamily A member 2chr9:137016471|Del:TCT…>Tc.2923+1_2924-1delSplice donor variant54
ACCS1-aminocyclopropane-1-carboxylate synthase homolog (inactive)chr11:44083431|SNP:C>TPro421LeuMissense53
ANKRD36Ankyrin repeat domain 36chr2:97192885|Del:CGG…A>Cc.2376+2_2377delSplice donor variant54
CEMIP2Cell migration inducing hyaluronidase 2chr9:71745318|SNP:C>TArg245LysMissense53
EIF4G2Eukaryotic translation initiation factor 4 gamma 2chr11:10806814|SNP:C>Ac.107+6G>TSplice region variant54
ETHE1ETHE1 persulfide dioxygenasechr19:43526349|Del:ACT…AC>Ac.226+1_227-1delSplice donor variant54
HKDC1Hexokinase domain containing 1chr10:69266754|SNP:C>AAsn917LysMissense52
ISG20L2Interferon stimulated exonuclease gene 20 like 2chr1:156727264|SNP:T>CAsn130SerMissense54
KIAA0100KIAA0100chr17:28628312|SNP:A>CVal137GlyMissense54
MAP1SMicrotubule associated protein 1Schr19:17726616|SNP:C>GSer411CysMissense54
MED16Mediator complex subunit 16chr19:868115|SNP:C>TGlu874LysMissense55
MED25Mediator complex subunit 25chr19:49829947|Del:TGG…A>Tc.688+1_689-1delSplice donor variant53
MIA3MIA SH3 domain ER export factor 3chr1:222629034|SNP:A>GLys188ArgMissense54
PON2Paraoxonase 2chr7:95405463|SNP:G>CSer311CysMissense54
TANC1Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1chr2:159097663|SNP:C>TPro30SerMissense54
TEP1Telomerase associated protein 1chr14:20404722|SNP:G>TAsn307LysMissense54
YTHDC1YTH domain containing 1chr4:68337450|Del:TCT…C>Tc.459+1_460-1delSplice donor variant54
  • ICI-DM, immune checkpoint inhibitor-induced diabetes mellitus.